Summaries for Niemann-Pick Disease, Type B

UniProtKB/Swiss-Prot
:71
Niemann-Pick disease B: A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.

MalaCards based summary
:
Niemann-Pick Disease, Type B, also known as niemann-pick disease type e, is related to niemann-pick disease and niemann-pick disease, type a, and has symptoms including dyspnea, splenomegaly and recurrent respiratory infections. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1). The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung.

OMIM
:53
Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007).
Schuchman (2007) provided a detailed review of Niemann-Pick disease type B, including clinical management. (607616)